Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
about
Splicing in action: assessing disease causing sequence changesJagged-1 mutation analysis in Italian Alagille syndrome patientsEhlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutationMolecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.Selective effects of methylphenidate in attention deficit hyperactivity disorder: a functional magnetic resonance study.Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos SyndromehnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genesGlobal control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome.A novel algorithm for identification of activated cryptic 5' splice sites.
P2860
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P2860
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
@yue
1997年學術文章
@zh-hant
name
Splicing defects in the COL3A1 ...... hlers-Danlos syndrome type IV.
@en
Splicing defects in the COL3A1 gene: marked preference for 5'
@nl
type
label
Splicing defects in the COL3A1 ...... hlers-Danlos syndrome type IV.
@en
Splicing defects in the COL3A1 gene: marked preference for 5'
@nl
prefLabel
Splicing defects in the COL3A1 ...... hlers-Danlos syndrome type IV.
@en
Splicing defects in the COL3A1 gene: marked preference for 5'
@nl
P2093
P2860
P356
P1476
Splicing defects in the COL3A1 ...... hlers-Danlos syndrome type IV.
@en
P2093
Goldstein JA
Schwarze U
P2860
P304
P356
10.1086/301641
P407
P577
1997-12-01T00:00:00Z